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Simon, T., Skohlhase, J., Wilhelm, C., Kochanek, M., De Carolis, B. and Berthold, F. (2010) Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. American Journal of Medical Genetics Part A, 152A, 1575-1579.

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• TITLE: Rothmund-thomson syndrome and cutan T-cell lymphoma in childhood

  AUTHORS: Katalin Bartyik, K. Míta Gábor, Béla Iványi, István Németh, Eszter Karg

  KEYWORDS: Rothmond Thomson Syndrome; Genetic Disorder; Cutan T-Cell Lymphoma

  JOURNAL NAME: Open Journal of Pediatrics, Vol.3 No.3, August 29, 2013

  ABSTRACT: We report a 3-year-old girl suffering from RothmundThomson Syndrome (RTS). The patient at birth had multiplex anomalies: poikilodermatous rash, sceletal abnormalities: palatoschisis, micrognathi, aplasia radii, hypoplastic right and left thenar and thumbs, pesequinus on both site, ectopy renis. The patient in the later ages was detected dental malformation, facial dysmorfism. At the age 3, she had lasion in her muscle. After biopsy, histological examination showed cutan T-cell lymphoma. The patient is the first case who had cutan T-cell lymphoma associated with RTS in this young age.